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SMARCA4 Gene(Protein Coding)

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4

GCID:
GC19P010932
GIFtS:
60
Genes Participants
UDN Logo

Aliases for SMARCA4 Gene

Aliases for SMARCA4 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4 2 3 5
  • Mitotic Growth And Transcription Activator 2 3 4
  • ATP-Dependent Helicase SMARCA4 2 3 4
  • Global Transcription Activator Homologous Sequence 2 3
  • Sucrose Nonfermenting-Like 4 2 3
  • BRG1-Associated Factor 190A 3 4
  • Protein Brahma Homolog 1 3 4
  • BRM/SWI2-Related Gene 1 2 3
  • Homeotic Gene Regulator 2 3
  • Brahma Protein-Like 1 2 3
  • Nuclear Protein GRB1 2 3
  • Protein BRG-1 3 4
  • SNF2-Like 4 2 3
  • SNF2-Beta 3 4
  • BAF190A 3 4
  • SNF2L4 3 4
  • BRG1 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 4 4
  • Transcription Activator BRG1 3
  • EC 3.6.4.- 4
  • EC 3.6.1 56
  • SNF2LB 3
  • BAF190 3
  • HSNF2b 3
  • MRD16 3
  • RTPS2 3
  • SNF2B 4
  • SWI2 3
  • SNF2 3
  • CSS4 3

External Ids for SMARCA4 Gene

Previous HGNC Symbols for SMARCA4 Gene

  • SNF2L4

Previous GeneCards Identifiers for SMARCA4 Gene

  • GC19P011203
  • GC19P010916
  • GC19P011071
  • GC19P010649

Summaries for SMARCA4 Gene

Entrez Gene Summary for SMARCA4 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

CIViC summary for SMARCA4 Gene

GeneCards Summary for SMARCA4 Gene

SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4) is a Protein Coding gene. Diseases associated with SMARCA4 include Coffin-Siris Syndrome 4 and Rhabdoid Tumor Predisposition Syndrome 2. Among its related pathways are PEDF Induced Signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is SMARCA2.

UniProtKB/Swiss-Prot for SMARCA4 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1.

Tocris Summary for SMARCA4 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for SMARCA4 Gene

Additional gene information for SMARCA4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCA4 Gene

Genomics for SMARCA4 Gene

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  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SMARCA4 Gene

Promoters and enhancers for SMARCA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I010959 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.8 +1.1 1135 4.9 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 SMARCA4 ILF3-AS1 AP1M2 GC19P011005
GH19I010984 Promoter 0.5 EPDnew 562.1 +23.2 23169 0.1 SMARCA4 TIMM29 YIPF2 KANK2 SPC24 GC19P011005
GH19I010100 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -856.5 -856535 8.3 HDGF FOXA2 PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 PPAN ANGPTL6 PPAN-P2RY11 ZNF699 ILF3 LOC100419831 ZNF317 FBXL12 ZNF559 KRI1
GH19I010870 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -88.9 -88914 3.1 HDGF ARNT DMAP1 ZNF2 POLR2B ZNF143 KLF13 SP3 SP5 ZNF592 CARM1 ZNF439 ZNF627 RAVER1 HNRNPA1P10 KRI1 ILF3 ZNF491 ZNF441 PRKCSH
GH19I010700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 -259.2 -259247 1.7 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 E2F8 ZNF207 QTRT1 ZNF627 ILF3 LOC100419831 FBXL12 KRI1 DNMT1 RAVER1 YIPF2 CDC37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMARCA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMARCA4 gene promoter:

Genomic Locations for SMARCA4 Gene

Genomic Locations for SMARCA4 Gene
chr19:10,960,922-11,065,395
(GRCh38/hg38)
Size:
104,474 bases
Orientation:
Plus strand
chr19:11,071,598-11,176,071
(GRCh37/hg19)

Genomic View for SMARCA4 Gene

Genes around SMARCA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SMARCA4 Gene

Proteins for SMARCA4 Gene

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  • Protein details for SMARCA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51532-SMCA4_HUMAN
    Recommended name:
    Transcription activator BRG1
    Protein Accession:
    P51532
    Secondary Accessions:
    • B1A8Z4
    • B1A8Z5
    • B1A8Z6
    • B1A8Z7
    • E9PBR8
    • O95052
    • Q9HBD3

    Protein attributes for SMARCA4 Gene

    Size:
    1647 amino acids
    Molecular mass:
    184646 Da
    Quaternary structure:
    • Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:26601204). Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1/BAF190A, and TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes (PubMed:11839798). Component of the CREST-BRG1 complex, at least composed of SMARCA4/BRG1/BAF190A, SS18L1/CREST, HDAC1, RB1 and SP1 (By similarity). Interacts with PHF10/BAF45A (By similarity). Interacts with MYOG (By similarity). Interacts directly with IKFZ1; the interaction associates IKFZ1 with the BAF complex (PubMed:10204490). Interacts with ZEB1 (via N-terminus) (PubMed:20418909). Interacts with NR3C1, PGR, SMARD1, TOPBP1 and ZMIM2/ZIMP7 (PubMed:9590696, PubMed:12917342, PubMed:15075294, PubMed:16051670). Interacts with (via the bromodomain) with TERT; the interaction regulates Wnt-mediated signaling (PubMed:19571879). Interacts with TBX21 in a KDM6B-dependent manner (By similarity). Interacts with KDM6A and KDM6B (By similarity). Interacts with HNRNPU; this interaction occurs in embryonic stem cells and stimulates global Pol II-mediated transcription (By similarity). Interacts with ACTL6A (PubMed:28649782).

    Three dimensional structures from OCA and Proteopedia for SMARCA4 Gene

    Alternative splice isoforms for SMARCA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCA4 Gene

Protein Expression for SMARCA4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SMARCA4 Gene

P51532:
  • IFDSDWNP
  • DEMGLGKT
  • TGTPLQN
  • ELWALLNF
  • MGLGKTIQ
  • GKFELLDRILPKL
  • FLLSTRA
  • NGILADE
  • RAHRIGQ
  • LHKVLRP
  • DSDWNPH
  • LSTRAGGLG

Post-translational modifications for SMARCA4 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5399, posLast=405405, isoforms=2, 3, 4, 5437, isoforms=2, 3, 4, 5626, posLast=997997, and posLast=13861386

Other Protein References for SMARCA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SMARCA4 Gene

Gene Families for SMARCA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SMARCA4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SMARCA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51532

UniProtKB/Swiss-Prot:

SMCA4_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with SMARCA4: view

Function for SMARCA4 Gene

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  2. CRISPR
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Molecular function for SMARCA4 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1.

Enzyme Numbers (IUBMB) for SMARCA4 Gene

Phenotypes From GWAS Catalog for SMARCA4 Gene

Gene Ontology (GO) - Molecular Function for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA,IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA,IDA 16217013
GO:0001105 RNA polymerase II transcription coactivator activity IDA 15774904
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IDA 22368283
genes like me logo Genes that share ontologies with SMARCA4: view
genes like me logo Genes that share phenotypes with SMARCA4: view

Human Phenotype Ontology for SMARCA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCA4 Gene

MGI Knock Outs for SMARCA4:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for SMARCA4 Gene

Localization for SMARCA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA4 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCA4 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12065415
GO:0005615 extracellular space IDA,HDA 22664934
GO:0005634 nucleus IEA,IDA 8232556
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 22368283
genes like me logo Genes that share ontologies with SMARCA4: view

Pathways & Interactions for SMARCA4 Gene

genes like me logo Genes that share pathways with SMARCA4: view

SIGNOR curated interactions for SMARCA4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS 17938176
GO:0003407 neural retina development IEP 18816825
GO:0006325 chromatin organization TAS --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IMP,IDA 22368283
genes like me logo Genes that share ontologies with SMARCA4: view

Drugs & Compounds for SMARCA4 Gene

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(15) Drugs for SMARCA4 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PFI 3 Pharma inhibitor of polybromo 1 and SMARCA4 0

(10) Additional Compounds for SMARCA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SMARCA4 Gene

Compound Action Cas Number
PFI 3 inhibitor of polybromo 1 and SMARCA4
genes like me logo Genes that share compounds with SMARCA4: view

Drug Products

Transcripts for SMARCA4 Gene

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mRNA/cDNA for SMARCA4 Gene

(19) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(896) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SMARCA4 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15: - - - -
SP16: - - -
SP17: - - - -
SP18: - - -
SP19: - - -
SP20: - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: - - -

ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: - -
SP8: - -
SP9: - -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12: -
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for SMARCA4 Gene

GeneLoc Exon Structure for
SMARCA4
ECgene alternative splicing isoforms for
SMARCA4

Expression for SMARCA4 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMARCA4 Gene

mRNA expression in normal human tissues for SMARCA4 Gene
mRNA expression by GTEx for SMARCA4 GenemRNA expression by BioGPS for SMARCA4 Gene

Protein differential expression in normal tissues from HIPED for SMARCA4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.7), Fetal Brain (6.8), and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMARCA4 Gene



Protein tissue co-expression partners for SMARCA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCA4 Gene:

SMARCA4

SOURCE GeneReport for Unigene cluster for SMARCA4 Gene:

Hs.327527

mRNA Expression by UniProt/SwissProt for SMARCA4 Gene:

P51532-SMCA4_HUMAN
Tissue specificity: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level).

Evidence on tissue expression from TISSUES for SMARCA4 Gene

  • Lung(4.9)
  • Nervous system(4.9)
  • Liver(4.4)
  • Eye(3.9)
  • Skin(3.2)
  • Intestine(3)
  • Kidney(2.7)
  • Blood(2.6)
  • Heart(2.2)
  • Muscle(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SMARCA4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMARCA4 Gene

Orthologs for SMARCA4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia bta-mir-2882 34
  • 99 (a)
 OneToOne
SMARCA4 33
  • 92.2 (n)
oppossum
(Monodelphis domestica)
 Mammalia SMARCA4 34
  • 99 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SMARCA4 33 34
  • 98.96 (n)
dog
(Canis familiaris)
 Mammalia SMARCA4 34 33
  • 91.47 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SMARCA4 34
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Smarca4 16 34 33
  • 89.24 (n)
rat
(Rattus norvegicus)
 Mammalia Smarca4 33
  • 88.78 (n)
chicken
(Gallus gallus)
 Aves SMARCA4 34 33
  • 86.03 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.605 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3445 33
zebrafish
(Danio rerio)
 Actinopterygii smarca4 33 34
  • 89 (a)
SMARCA4 (1 of 3) 34
  • 89 (a)
 OneToMany
smarca4a 33
  • 78.79 (n)
SMARCA4 (2 of 3) 34
  • 53 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10019 33
fruit fly
(Drosophila melanogaster)
 Insecta brm 35 34
  • 61 (a)
worm
(Caenorhabditis elegans)
 Secernentea C52B9.8 35 34
  • 53 (a)
swsn-4 34
  • 46 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes STH1 34
  • 34 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3531 34
  • 61 (a)
 OneToMany
Species where no ortholog for SMARCA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCA4 Gene

ENSEMBL:
Gene Tree for SMARCA4 (if available)
TreeFam:
Gene Tree for SMARCA4 (if available)

Paralogs for SMARCA4 Gene

Paralogs for SMARCA4 Gene

(8) SIMAP similar genes for SMARCA4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SMARCA4: view

Variants for SMARCA4 Gene

Sequence variations from dbSNP and Humsavar for SMARCA4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000417349 uncertain-significance, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome 11,039,558(+) G/T intron_variant
rs1003149388 likely-benign, Hereditary cancer-predisposing syndrome 11,059,761(+) A/G coding_sequence_variant, synonymous_variant
rs1006792160 likely-benign, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome 11,035,042(+) G/A coding_sequence_variant, synonymous_variant
rs1013323481 likely-benign, Rhabdoid tumor predisposition syndrome 2 11,027,774(+) C/T intron_variant
rs1013942482 uncertain-significance, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome 10,987,801(+) C/A/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCA4 Gene

Variant ID Type Subtype PubMed ID
esv2667341 CNV deletion 23128226
esv275095 CNV gain+loss 21479260
esv3556026 CNV deletion 23714750
esv3643661 CNV loss 21293372
esv3893163 CNV gain 25118596
nsv1109167 CNV deletion 24896259
nsv1113972 CNV deletion 24896259
nsv1136278 CNV deletion 24896259
nsv470126 CNV loss 18288195
nsv476987 CNV novel sequence insertion 20440878
nsv7305 OTHER inversion 18451855
nsv833749 CNV loss 17160897
nsv833750 CNV loss 17160897
nsv833751 CNV loss 17160897

Variation tolerance for SMARCA4 Gene

Residual Variation Intolerance Score: 0.422% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMARCA4 Gene

Human Gene Mutation Database (HGMD)
SMARCA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA4 Gene

Disorders for SMARCA4 Gene

MalaCards: The human disease database

(28) MalaCards diseases for SMARCA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coffin-siris syndrome 4
  • css4
rhabdoid tumor predisposition syndrome 2
  • rtps2
ovarian small cell carcinoma
  • small cell carcinoma of the ovary
smarca4-deficient sarcoma of thorax
  • smarca4-deficient thoracic sarcoma
rhabdoid cancer
  • malignant rhabdoid tumour
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMCA4_HUMAN
  • Coffin-Siris syndrome 4 (CSS4) [MIM:614609]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhabdoid tumor predisposition syndrome 2 (RTPS2) [MIM:613325]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. {ECO:0000269 PubMed:20137775}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SMARCA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMARCA4: view

No data available for Genatlas for SMARCA4 Gene

Publications for SMARCA4 Gene

  1. Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines. (PMID: 18386774) Medina PP … Sanchez-Cespedes M (Human mutation 2008) 3 4 22 58
  2. Solution structure of human Brg1 bromodomain and its specific binding to acetylated histone tails. (PMID: 17274598) Shen W … Shi Y (Biochemistry 2007) 3 4 22 58
  3. Structural ramification for acetyl-lysine recognition by the bromodomain of human BRG1 protein, a central ATPase of the SWI/SNF remodeling complex. (PMID: 17582821) Singh M … Holak TA (Chembiochem : a European journal of chemical biology 2007) 3 4 22 58
  4. BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. (PMID: 11085541) Wong AK … Lees E (Cancer research 2000) 3 4 22 58
  5. Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. (PMID: 8208605) Chiba H … Kato H (Nucleic acids research 1994) 2 3 4 58

Products for SMARCA4 Gene

Sources for SMARCA4 Gene